Glanzmann's thrombasthenia

Glanzmann's thrombasthenia is a rare, inherited bleeding disorder that results from a defect in platelet function. It is characterized by the inability of platelets to properly stick together and form clots to stop bleeding.

Symptoms

The most common symptoms of Glanzmann's thrombasthenia include nosebleeds, bruising, menorrhagia (heavy menstrual bleeding), and gum bleeding. In severe cases, patients may experience gastrointestinal bleeding, hematuria (blood in urine), and intracranial hemorrhage (bleeding in the brain).

Causes

Glanzmann's thrombasthenia is caused by mutations in the ITGA2B and ITGB3 genes. These genes provide instructions for making proteins that play a crucial role in platelet aggregation, a process necessary for normal blood clotting.

Diagnosis

Diagnosis of Glanzmann's thrombasthenia is based on clinical symptoms, family history, and specialized blood tests. These tests may include platelet aggregation tests, flow cytometry, and genetic testing.

Treatment

Treatment for Glanzmann's thrombasthenia is aimed at controlling bleeding episodes and preventing bleeding during surgical procedures. This may involve platelet transfusions, antifibrinolytic medicines, and recombinant factor VIIa.

See also

• Bleeding disorder
• Platelet function disorder
• ITGA2B
• ITGB3

References

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